G8R (p.Gly8Arg) variant of EGFR (Epidermal growth factor receptor)
G8R (p.Gly8Arg) in EGFR (Epidermal growth factor receptor) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
G8R (p.Gly8Arg) variant details
- p.Gly8Arg
- rs754259847
- ClinGen CA367611195
- ClinVar RCV001338900
- ClinVar RCV005330713
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.10
- MetaLR 0.25
- MetaSVM -0.92
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.20
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00014)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors… (PMID 23562183)